Linked Data
dbSNP Id:
rs2233860
ExAC:
14:21360344 G / C
gnomAD v2:
14-21360344-G-C
gnomAD v3:
14-20892185-G-C
gnomAD v4:
14-20892185-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20892185G>C , CM000676.2:g.20892185G>C | GRCh38 |
| NC_000014.8:g.21360344G>C , CM000676.1:g.21360344G>C | GRCh37 |
| NC_000014.7:g.20430184G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304639.4:c.*16G>C MANE Select | ENSP00000302324.3:n.*16G>C | |
| ENST00000304639.3:c.*16G>C | ENSP00000302324.3:n.*16G>C | |
| NM_002935.2:c.*16G>C | NP_002926.2:n.*16G>C | |
| XR_110261.2:n.209-16442C>G | ||
| XR_110261.3:n.726-16442C>G | ||
| NM_002935.3:c.*16G>C MANE Select | NP_002926.2:n.*16G>C |